Canonical Allele Identifier: CA2579234161

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116847647_116847650del , CM000670.2:g.116847647_116847650del GRCh38
NC_000008.10:g.117859886_117859889del , CM000670.1:g.117859886_117859889del GRCh37
NC_000008.9:g.117929067_117929070del NCBI36
NG_032862.1:g.32218_32221del , LRG_772:g.32218_32221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.1747_1750del (RAD21) ENSP00000427923.2:p.Glu583TyrfsTer28
ENST00000517749.2:c.1747_1750del (RAD21) ENSP00000430273.2:p.Glu583TyrfsTer28
ENST00000519837.6:c.1747_1750del (RAD21) ENSP00000430524.2:p.Glu583TyrfsTer28
ENST00000520992.6:c.1747_1750del (RAD21) ENSP00000429342.2:p.Glu583TyrfsTer28
ENST00000522699.2:c.1747_1750del (RAD21) ENSP00000428158.2:p.Glu583TyrfsTer28
ENST00000523986.6:n.4716_4719del (RAD21)
ENST00000685972.1:n.5050_5053del (RAD21)
ENST00000687122.1:n.4575_4578del (RAD21)
ENST00000687358.1:c.1747_1750del (RAD21) ENSP00000509687.1:p.Glu583TyrfsTer28
ENST00000687902.1:c.*122_*125del (RAD21) ENSP00000510729.1:n.*122_*125del
ENST00000689124.1:n.1961_1964del (RAD21)
ENST00000689154.1:n.1639_1642del (RAD21)
ENST00000690166.1:n.6616_6619del (RAD21)
ENST00000297338.7:c.1747_1750del (RAD21) MANE Select ENSP00000297338.2:p.Glu583TyrfsTer28
ENST00000297338.6:c.1747_1750del (RAD21) ENSP00000297338.2:p.Glu583TyrfsTer28
ENST00000517749.1:c.61_64del (RAD21) ENSP00000430273.1:p.Glu21TyrfsTer28
ENST00000517820.1:c.189-1241_189-1238del (UTP23) ENSP00000427767.1:n.189-1241_189-1238del
ENST00000518055.1:c.382_385del (RAD21) ENSP00000428003.1:p.Glu128TyrfsTer28
ENST00000520733.5:c.46-1241_46-1238del (UTP23) ENSP00000429384.1:n.46-1241_46-1238del
ENST00000521703.5:c.*93-1241_*93-1238del (UTP23) ENSP00000428455.1:n.*93-1241_*93-1238del
ENST00000523986.5:c.259_262del (RAD21) ENSP00000428513.1:p.Glu87TyrfsTer28
ENST00000524128.1:c.*93-1241_*93-1238del (UTP23) ENSP00000430309.1:n.*93-1241_*93-1238del
NM_006265.2:c.1747_1750del , LRG_772t1:c.1747_1750del (RAD21) NP_006256.1:p.Glu583TyrfsTer28
XR_928356.1:n.663-1241_663-1238del (UTP23)
NM_006265.3:c.1747_1750del (RAD21) MANE Select NP_006256.1:p.Glu583TyrfsTer28